Variant report

Variant	rs519201
Chromosome Location	chr11:72476242-72476243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72467860..72470770-chr11:72475340..72477215,2	MCF-7	breast:
2	chr11:72472551..72476853-chr11:72484240..72487215,3	MCF-7	breast:
3	chr11:72468175..72472129-chr11:72473505..72476644,4	K562	blood:

Variant related genes	Relation type
ENSG00000214530	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12287469	1.00[EUR][1000 genomes]
rs12419767	1.00[EUR][1000 genomes]
rs55816648	1.00[EUR][1000 genomes]
rs56251316	1.00[EUR][1000 genomes]
rs57712040	1.00[EUR][1000 genomes]
rs58756839	1.00[EUR][1000 genomes]
rs59700555	1.00[EUR][1000 genomes]
rs60057195	1.00[EUR][1000 genomes]
rs61083756	1.00[EUR][1000 genomes]
rs615703	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61661445	1.00[EUR][1000 genomes]
rs73543236	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv825992	chr11:72476174-72524295	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72464400-72479200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr11:72464400-72483600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:72464400-72491400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr11:72464600-72492000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:72464800-72483200	Weak transcription	Fetal Thymus	thymus
6	chr11:72470000-72491400	Weak transcription	Aorta	Aorta
7	chr11:72470200-72482600	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:72470400-72477400	Weak transcription	Esophagus	oesophagus
9	chr11:72470400-72479000	Weak transcription	Right Ventricle	heart
10	chr11:72470400-72482000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:72470400-72482200	Weak transcription	Brain Angular Gyrus	brain
12	chr11:72470400-72482200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:72470400-72486800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:72470400-72491000	Weak transcription	Brain Germinal Matrix	brain
15	chr11:72470600-72477600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:72470600-72492000	Weak transcription	Primary T cells from cord blood	blood
17	chr11:72470800-72477200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:72470800-72479400	Weak transcription	Colonic Mucosa	Colon
19	chr11:72470800-72481800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:72470800-72482800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:72470800-72483600	Weak transcription	Fetal Lung	lung
22	chr11:72470800-72483600	Weak transcription	Right Atrium	heart
23	chr11:72470800-72484200	Weak transcription	Fetal Brain Female	brain
24	chr11:72470800-72484400	Weak transcription	Ovary	ovary
25	chr11:72471000-72482400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:72471000-72482400	Weak transcription	K562	blood
27	chr11:72472200-72477600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:72472200-72481200	Genic enhancers	Fetal Intestine Small	intestine
29	chr11:72472200-72482200	Weak transcription	Brain Anterior Caudate	brain
30	chr11:72472200-72484400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:72472400-72477200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:72472800-72482200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:72473600-72476400	Strong transcription	HepG2	liver
34	chr11:72473600-72480200	Genic enhancers	Fetal Intestine Large	intestine
35	chr11:72474000-72479600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:72474200-72477200	Weak transcription	Gastric	stomach
37	chr11:72474200-72477600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:72474200-72479000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:72474200-72483000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:72474200-72483200	Weak transcription	Left Ventricle	heart
41	chr11:72474200-72491400	Weak transcription	Primary B cells from cord blood	blood
42	chr11:72474400-72482400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:72474600-72484200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:72474600-72490600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:72474800-72480400	Strong transcription	Fetal Stomach	stomach
46	chr11:72474800-72484200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:72475000-72487000	Weak transcription	Spleen	Spleen
48	chr11:72475200-72476600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr11:72475200-72476600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:72475200-72481600	Enhancers	Liver	Liver

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